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abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyrin-B-related cardiac arrhythmia
anterior segment dysgenesis 1
anterior segment dysgenesis 4
antithrombin III deficiency
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
Arthrogryposis and Ectodermal Dysplasia
arthrogryposis due to muscular dystrophy
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis Multiplex Congenita 5
Arthrogryposis Multiplex Congenita Whistling Face
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, Mental Retardation, and Seizures
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis, X-Linked, Type V
atrial heart septal defect 2
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant dystrophic epidermolysis bullosa +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis +
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal dominant microcephaly +
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant non-syndromic intellectual disability +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
Axenfeld-Rieger syndrome +
Bainbridge-Ropers syndrome
Bannayan-Riley-Ruvalcaba syndrome
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria
bilateral optic nerve hypoplasia
blepharocheilodontic syndrome +
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnian type palmoplantar keratoderma
Boylan Dew Greco Syndrome
brachydactyly-syndactyly syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
Camptodactyly-Ichthyosis Syndrome
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Carney-Stratakis syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 5 multiple types
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
cerebrocostomandibular syndrome
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Charcot-Marie-Tooth disease +
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
childhood onset GLUT1 deficiency syndrome 2
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 5q12 deletion syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleidocranial dysplasia +
COL4A1-related familial vascular leukoencephalopathy
complex cortical dysplasia with other brain malformations +
congenital adrenal insufficiency
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy
Congenital Arthrogryposis with Anterior Horn Cell Disease
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital dyserythropoietic anemia type IV
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital muscular dystrophy due to LMNA mutation
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
Congenital Neuropathy with Arthrogryposis Multiplex
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
cortisone reductase deficiency 2
craniofacial-deafness-hand syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
Cyprus Facial Neuromusculoskeletal Syndrome
D-2-hydroxyglutaric aciduria 2
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
Diamond Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diffuse cystic renal dysplasia
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1Y
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
distal arthrogryposis type 10
distal arthrogryposis type 1A
distal arthrogryposis type 1B
distal arthrogryposis type 2A
distal arthrogryposis type 2B1
distal arthrogryposis type 2B2
distal arthrogryposis type 2B3
distal arthrogryposis type 3
distal arthrogryposis type 5
distal arthrogryposis type 7
distal hereditary motor neuronopathy type 7 +
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane-radial ray syndrome
dysplastic nevus syndrome +
dystransthyretinemic hyperthyroxinemia
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome musculocontractural type 2
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 6
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial adenomatous polyposis 1
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial hypocalciuric hypercalcemia +
familial juvenile hyperuricemic nephropathy +
familial male-limited precocious puberty
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial progressive hyperpigmentation with or without hypopigmentation
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
Fanconi anemia complementation group R
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
fetal akinesia deformation sequence syndrome +
fibrodysplasia ossificans progressiva
focal nonepidermolytic palmoplantar keratoderma 1
focal nonepidermolytic palmoplantar keratoderma 2
focal or diffuse nonepidermolytic palmoplantar keratoderma
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
frontometaphyseal dysplasia 2
Giant Axonal Neuropathy +
giant axonal neuropathy 2
gnathodiaphyseal dysplasia
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
growth hormone insensitivity syndrome with immune dysregulation 2
Hagemoser Weinstein Bresnick Syndrome
hand-foot-genital syndrome
heparin cofactor II deficiency
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
hereditary hemorrhagic telangiectasia +
hereditary mixed polyposis syndrome 2
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 7
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive
hereditary spastic paraplegia +
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 17
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 72
hereditary spastic paraplegia 73
hereditary spastic paraplegia 8
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 4
Hereditary Thermosensitive Neuropathy
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence
hyper IgE recurrent infection syndrome 1
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
hypertension and brachydactyly syndrome
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 6
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
inflammatory bowel disease 21
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
intellectual disability-severe speech delay-mild dysmorphism syndrome
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated microphthalmia 7
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
Jequier Kozlowski Skeletal Dysplasia
Johnston Aarons Schelley Syndrome
juvenile polyposis syndrome +
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Ladda Zonana Ramer syndrome
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis 11
Leber congenital amaurosis 13
Leber congenital amaurosis with early-onset deafness
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
leucine-sensitive hypoglycemia of infancy
lissencephaly 9 with complex brainstem malformation
lymphedema-distichiasis syndrome +
macrocephaly-autism syndrome
mandibulofacial dysostosis, Guion-Almeida type
Massa Casaer Ceulemans Syndrome
maturity-onset diabetes of the young +
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megalencephalic leukoencephalopathy with subcortical cysts 2B
melanoma and neural system tumor syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Miller-Dieker lissencephaly syndrome
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
mitochondrial DNA depletion syndrome 12a
Miura type epiphyseal chondrodysplasia
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A +
multiple endocrine neoplasia type 2B +
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia with myopia and deafness
Multiple Pterygium Syndrome, Lethal Type
Naegeli-Franceschetti-Jadassohn syndrome
nephrotic syndrome type 4
neurodegeneration with brain iron accumulation 3
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
neurofibromatosis-Noonan syndrome
neurogenic arthrogryposis multiplex congenita +
neurogenic scapuloperoneal syndrome Kaeser type
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
ocular albinism with sensorineural deafness
Opitz GBBB syndrome type II
orofaciodigital syndrome X
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
otospondylomegaepiphyseal dysplasia, autosomal dominant
overhydrated hereditary stomatocytosis
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
paramyotonia congenita of Von Eulenburg
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
Pelvic Dysplasia Arthrogryposis of Lower Limbs
permanent neonatal diabetes mellitus +
pigmented paravenous chorioretinal atrophy
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 9
polycystic liver disease +
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
popliteal pterygium syndrome +
posterior amorphous corneal dystrophy
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
primary ciliary dyskinesia 43
primary failure of tooth eruption
primary ovarian insufficiency 11
primary ovarian insufficiency 16
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive myoclonus epilepsy 7
progressive osseous heteroplasia
proprotein convertase 1/3 deficiency
prothrombin thrombophilia
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
Ray Peterson Scott Syndrome
retinal arterial tortuosity
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa-deafness syndrome
Rubinstein-Taybi syndrome +
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
selective pituitary thyroid hormone resistance
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
severe congenital neutropenia 1
Slowed Nerve Conduction Velocity, Autosomal Dominant
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
speech-language disorder-1
spinal muscular atrophy with lower extremity predominance +
split hand-foot malformation 1
split hand-foot malformation 4
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Maroteaux type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Kozlowski type
spondyloperipheral dysplasia
Spranger Schinzel Myers Syndrome
STING-associated vasculopathy with onset in infancy
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
tarsal-carpal coalition syndrome +
terminal osseous dysplasia
Thiel-Behnke corneal dystrophy
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
tibial muscular dystrophy
torsion dystonia with onset in infancy
transthyretin amyloidosis
Treacher Collins syndrome +
trichodontoosseous syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
uveal coloboma-cleft lip and palate-intellectual disability
vascular type Ehlers-Danlos syndrome +
vertebral anomalies and variable endocrine and T-cell dysfunction
Weyers acrofacial dysostosis
Williams-Beuren syndrome +
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